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المؤلفون: Shan Li, Sean Ekins, Feng Wang, Steven Q. Le, Tsui-Fen Chou, Chelsee Sauni, Brett Lomenick, Xiaoyi Zhang, Patricia I. Dickson, Shih Hsin Kan, Srikanth Singamsetty, Jill Wood, Derek R. Moen
المصدر: Molecular Pharmaceutics. 18:214-227
مصطلحات موضوعية: Mucopolysaccharidosis Type IIID, Mucopolysaccharidosis, Pharmaceutical Science, 02 engineering and technology, Heparan sulfate, Enzyme replacement therapy, Pharmacology, 021001 nanoscience & nanotechnology, medicine.disease, N-acetylglucosamine-6-sulfatase, 030226 pharmacology & pharmacy, Glycosaminoglycan, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, chemistry, Drug Discovery, medicine, Molecular Medicine, 0210 nano-technology, Receptor, Sanfilippo syndrome
وصف الملف: application/pdf
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المؤلفون: Jennifer Pérez, Virginia Haurigot, Jesús Ruberte, Victor Sanchez, Anna Pujol, Sara Marcó, Xavier Sanchez, Carles Roca, Fatima Bosch, Albert Ribera, Miguel Garcia, Joan Bertolin, Xavier León, Pilar Villacampa, Sandra Motas
المصدر: Human molecular genetics. 26(8)
مصطلحات موضوعية: 0301 basic medicine, Somatic cell, Genetic enhancement, Genetic Vectors, Pharmacology, Biology, 03 medical and health sciences, Mice, Mucopolysaccharidosis III, Cerebrospinal fluid, Genetics, medicine, Animals, Humans, Molecular Biology, Genetics (clinical), Neuroinflammation, Sanfilippo syndrome, Mucopolysaccharidosis Type IIID, General Medicine, Genetic Therapy, Dependovirus, medicine.disease, Phenotype, Lysosomal Storage Diseases, Disease Models, Animal, 030104 developmental biology, Sulfatases, Homeostasis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b7342de99b1f2f15b0690b922431a8a
https://pubmed.ncbi.nlm.nih.gov/28334745 -
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المؤلفون: Jill Wood, Derek R. Moen, Sean Ekins, Tsui-Fen Chou, Steven Q. Le, Xiaoyi Zhang, Shih-hsin Kan, Patricia I. Dickson, Chelsee Sauni, Feng Wang
المصدر: Molecular Genetics and Metabolism. 126:S39
مصطلحات موضوعية: Mucopolysaccharidosis Type IIID, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Internal medicine, Genetics, medicine, Enzyme replacement therapy, business, Molecular Biology, Biochemistry
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المؤلفون: Feng Wang
المصدر: Molecular Genetics and Metabolism. 126:S149
مصطلحات موضوعية: Mucopolysaccharidosis Type IIID, Endocrinology, biology, Chemistry, Endocrinology, Diabetes and Metabolism, Chaperone (protein), Genetics, biology.protein, Cancer research, Molecular Biology, Biochemistry
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المؤلفون: Patricia I. Dickson, Steven Q. Le, Betty Anderson, Jill Wood, Tsui-Fen Chou, Chelsee Sauni, Shih-hsin Kan, Sean Ekins, Feng Wang
المصدر: Molecular Genetics and Metabolism. 123:S125
مصطلحات موضوعية: 0301 basic medicine, Mucopolysaccharidosis Type IIID, 6-Sulfatase, Endocrinology, Diabetes and Metabolism, Enzyme replacement therapy, Biochemistry, Molecular biology, law.invention, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, Endocrinology, chemistry, Glucosamine, law, Genetics, Recombinant DNA, Molecular Biology
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المؤلفون: Mengqing Chen, Shih-hsin Kan, Chou Tsui-Fen, Derek R. Moen, Jill Wood, Le Q Steven, Patricia I. Dickson, Sean Ekins
المصدر: Molecular Genetics and Metabolism. 120:S98
مصطلحات موضوعية: Mucopolysaccharidosis Type IIID, 6-Sulfatase, Endocrinology, Diabetes and Metabolism, Biochemistry, law.invention, chemistry.chemical_compound, Endocrinology, chemistry, Glucosamine, law, Genetics, Recombinant DNA, Molecular Biology
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المؤلفون: John J. Hopwood, Stacey A. Kraemer, John C. Baker, Kevin T. Cavanagh, Barbara King, Erinn Downs-Kelly, Joseph Alroy, Margaret Z. Jones, Rebecca E. Lucas
المصدر: Journal of Molecular Neuroscience. 15:251-262
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Mucopolysaccharidosis, Biology, Glycosaminoglycan, Mucopolysaccharidosis III, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Internal medicine, medicine, Animals, Glycosaminoglycans, Sanfilippo syndrome, Neurons, Mucopolysaccharidosis Type IIID, Goats, Brain, nutritional and metabolic diseases, General Medicine, Heparan sulfate, Enzyme replacement therapy, medicine.disease, N-acetylglucosamine-6-sulfatase, Recombinant Proteins, Disease Models, Animal, Treatment Outcome, Uronic Acids, Endocrinology, Liver, chemistry, Immunology, Hepatocytes, Hepatic stellate cell, Electrophoresis, Polyacrylamide Gel, Female, Heparitin Sulfate, Sulfatases
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المؤلفون: Clare E. Beesley, Ashok Vellodi, Elisabeth Young, D Burke, Bryan Winchester, Marie Jackson
المصدر: Journal of Medical Genetics. 40:192-194
مصطلحات موضوعية: Male, Mucopolysaccharidosis, DNA Mutational Analysis, Short Report, Consanguinity, Biology, medicine.disease_cause, Frameshift mutation, Mucopolysaccharidosis III, Genetics, medicine, Humans, Frameshift Mutation, Genetics (clinical), Sequence Deletion, Sanfilippo syndrome, Mucopolysaccharidosis Type IIID, Mutation, Base Sequence, Homozygote, DNA, N-acetylglucosamine-6-sulfatase, medicine.disease, Child, Preschool, Sulfatases
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المؤلفون: Alfonso Clavijo, Loyd Sneed, Feng Sun
المصدر: Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc. 22(4)
مصطلحات موضوعية: Mucopolysaccharidosis Type IIID, Genetics, medicine.medical_specialty, Goat Diseases, General Veterinary, Genotype, Mucopolysaccharidosis, Goats, Biology, Mucopolysaccharidoses, N-acetylglucosamine-6-sulfatase, medicine.disease, Polymerase Chain Reaction, Gene Expression Regulation, Enzymologic, law.invention, Real-time polymerase chain reaction, law, Molecular genetics, medicine, Animals, Genetic Predisposition to Disease, Sulfatases, Genotyping, Polymerase chain reaction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec8c9985f8bf9d335a4fd78e4142d607
https://pubmed.ncbi.nlm.nih.gov/20622237 -
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المؤلفون: George J G Ruijter, Friederike Bürger, D. Eckert, Feikje van den Bos-Terpstra, Martinus F. Niermeijer, Fatih Süheyl Ezgü, Ron A. Wevers, Peter Elfferich, Ayşegül Tokatlı, Ben J. H. M. Poorthuis, Marja W. Wessels, Dicky J. Halley, Emil Simeonov, Otto P. van Diggelen, Hugues Puissant, Ad N. Bosschaart, Aida M. Bertoli-Avella, Heymut Omran, Marlies J. Valstar, Roxana Kariminejad, Mirella Filocamo, Barbara Czartoryska, Renske Olmer, Patrick J. Willems, Sanne Neijs, Bianca M. de Graaf
المساهمون: Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Pediatrics, Clinical Genetics, Pediatric Surgery
المصدر: Human mutation, 31(5), E1348-E1360. Wiley-Liss Inc.
Human Mutation, 31(5), E1348-+. Wiley-Liss Inc.
Human Mutation, 31, 5, pp. E1348-60
Human Mutation, 31, E1348-60مصطلحات موضوعية: Adult, Male, Adolescent, DNA Mutational Analysis, Nonsense mutation, Neuroinformatics [DCN 3], Biology, Frameshift mutation, Mucopolysaccharidosis III, Young Adult, Genetics, medicine, Humans, Missense mutation, Child, Genetics (clinical), Sanfilippo syndrome, Mucopolysaccharidosis Type IIID, Glycostation disorders [IGMD 4], N-acetylglucosamine-6-sulfatase, medicine.disease, Phenotype, Child, Preschool, Mutation, Mutation testing, Female, Sulfatases, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
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